IthaID: 3114

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: T8002C HGVS Name: N/A

Also known as:

Comments: The C8002 allele associated with an increased risk of acute chest syndrome in children with sickle cell disease.

External Links

No available links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Acute chest syndrome


Chromosome: 6
Locus: NG_016196.1
Locus Location: 8002
Size: 1 bp
Located at: EDN1
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Guadeloupean
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Chaar V, Tarer V, Etienne-Julan M, Diara JP, Elion J, Romana M, ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia., Haematologica , 91(9), 1277-8, 2006 PubMed
Created on 2016-09-29 12:32:23, Last reviewed on 2016-09-29 12:46:51 (Show full history)

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